Canonical Allele Identifier: PA2826211282
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430746
ClinVar RCV Id: RCV000495891

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys39Phe
CA404074745
NM_001195798.2:c.116G>T